THALASSEMIA

 THALASSEMIA
INTRODUCTION
 Was first discovered in people living around
the Mediterranean sea,hence the name
‘thelassos’ meaning ‘sea’.
 Among two different types,beta thallasemia
is more common.
 Thalassemia is the most common inherited
single gene disorder in the world.
DEFINATION
 Thalasemias are a group of inherited,chronic
hemolytic anemias(Tambulkar R.S,1999)
 It is the chronic congenital hemolytic anemia
in which RBCs have abnormal
hemoglobin(Tatro suzanne.E,1996)
INCIDENCES
 Alpha thalassemias are concentrated in
Southeast Asia, Malaysia and southern China.
 Beta thalassemias are seen primarily in the
Mediterranean Sea area, Africa and
Southeast Asia.
PREVELENCES
 prevalent in populations that evolved in
humid climates
 The Maldives has the highest incidence of
Thalassemia in the world with a carrier rate
of 18% of the population.
 The estimated prevalence is 16% in people
from Cyprus, 1% in Thailand, and 3-8% in
populations from Bangladesh, China, India,
Malaysia and Pakistan.
PATHOPHYSIOLOGY
 Production of extremely thin,fragile erythrocytes
called target cells.
 Deficient synthesis of beta polypeptides causing
chronic microcytic hypochromic anemia(Tambulkar
R.S,1999)
 More production of fetal hemoglobin(are immature
and defective which damage RBCs and increase
haemolysis)
BLOOD VESSELS SHOWING
ABNORMAL BLOOD CELLS.
CLASSIFICATION
 Thallasemia major
 Caused by hemogeneous traits of genes.
 Children will have severe anemias.
 Children are retarded in their growth and
development.
 Many fail through puberty.
(Tatro suzanne.E,1996)
CONT………
 Thalasemia minor:
 Develops in heterozygotes
 Children has mild or no symptoms of anemia.
 Sometimes spleen might get
enlarged(Tambulkar R.S,1999)
 Doesn’t affect life expectancy
 Lifetime disease
 Doesn’t change to thalasemia major.
THALASEMIA MAJOR
 Clinicalmanifestations.
 Anemia is reflected by pallor,irritability and
poor feeding.
 Liver and spleen enlarged.
 Child develops mongoloid face.
 Retarded growth
 Haemosiderosis-deposition of iron in tissue
(waechter E.H et al,1985)

EFFECTS OF THALLASEMIA MAJOR
BODY ORGAN EFFECT OF ABNORMAL CELL
PRODUCTION
Bone marrow Facial mandibular growth
Skin Bronze coloured from

lemosiderosis and jaundice
Spleen Spleenomegaly
Liver Cirrhosis
pancreas Distortion of islet cell and

diabetes mellitus
Heart Circulatory overload
(Pillitteri adelle,2003)
COMPLICATIONS
 Cardiac complications like
Pericarditis,arrythmia and congestive cardiac
failure.
 Growth retardation
 Development of sex characteristics are
delayed.
(Waechter E.H et al,1985)
THALASEMIA MINOR
 Clinicalmanifestation;
 Mild pallor
 Enlarged spleen
 Anemia

CLINICAL MANIFESTATION
 Anemia.
 Fever
 Enlarged spleen.
 Haemochromatosis
 Haemosiderosis-deposition of iron in tissue
 Chronic effect result in skeletal changes,cardiac
enlargement,myocardial changes and pancreas
destruction.
(Tambulkar R.S,1999)
 Weakness and slow growth.
INVESTIGATIONS
 Blood investigations-LFT-serum bilirubin levels
elevated.
 Hemoglobin level.
(Tambulkar R.S,1999)
 X-ray of bone to detect widening of the marrow
cavity.(Waechter E.H et al,1985)
 Urine test-urobilinogen levels are elevated) (Tatro
suzanne.E,1996)
 Hemoglobin electrophoresis confirms the diagnosis.
(Wong and Whaley,1982)

TREATMENT
 No treatment needed for thalasemia minor.
 frequent blood transfusion are required.4-6
weeks to sustain life.
 Splenectomy.
 Use of deforocmine(iron chelating agent)-
excrete the excessive iron.
 Folic acid-prevent its deficiency.
 Genetic counselling is required in case of
Thalassemia minor.
 Self image problem.

CONT….
COMPLICATIONS
 Cardiac complications like
Pericarditis,arrythmia and congestive cardiac
failure.
 Growth retardation
 Development of sex characteristics are
delayed.
PARENTAL ADVICE
 can be provided by exploring their feelings
and explaining the care of the children.
 Parents defined to the genetic counselling to
prevent occurrence in the consequitive
children.
 Children may be referred to social and
supportive agencies.
CONCLUSION
Thalasemias are a group of inherited,chronic
hemolytic anemias(Tambulkar R.S,1999) More
production of fetal hemoglobin(are immature
and defective which damage RBCs and increase
hemoglobin)Can be classified into minor and
major.
Some of the clinical manifestations are
Anemia,Fever,Enlarged spleen and
Haemochromatosis.
REFERENCES.
i. Waechter E.G,Phillips J and Holaday B,
(1985),Nursing care of children,(10th edition).J.B
Lippincott Company.
ii. Tambulkar.R.S.(1999)Pediatric Nursing.(2nd
edition)Vora medical publications.Mumbai.
iii. Tatro,Suzanne E,Polaski,Arlene L,
(1996),Luckmann’s core principles and practice of
Medical Surgical Nursing.
iv. http://en.wikipedia.org/wiki/Thalassemia
v. Whaley L.F,Wong D.L(1982)Essentials of Pediatric
Nursing,C.V Mosby company,St.Louis,Missouri.

THALASSEMIA

Uploaded by

Copyright:

Available Formats

THALASSEMIA

Uploaded by

Document Information

Original Title

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

THALASSEMIA

Uploaded by

Copyright:

Available Formats

 THALASSEMIA

(waechter E.H et al,1985)

Bone marrow Facial mandibular growth

Skin Bronze coloured from

pancreas Distortion of islet cell and

Heart Circulatory overload

(Waechter E.H et al,1985)

(Wong and Whaley,1982)

(Waechter E.H et al,1985)

You might also like